Associated Papers
Corrigendum to "POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases": [Modern Pathology 38 (2025) 100676].
Hammer PM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases.
Hammer PM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.
Gerrish A et al.
Cancers, 2024
38672657 (PubMed )
Supplement: cancers-16-01565-s001.zip › cancers-2920790-supplementary_Table_S1_-_AG_editb.xlsx › Supp_Table_S1
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3A_CRC_data
RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR).
Kugalingam N et al.
Bmc Medical Genomics, 2023
Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.
Li L et al.
International Ophthalmology, 2022
Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
Rojanaporn D et al.
Translational Vision Science & Technology, 2022
36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › Bilat__germline__n__938
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › RB1
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Kohli M et al.
Ebiomedicine, 2020
32268276 (PubMed )
Supplement: mmc5.xlsx › cfDNA_SNV
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
29604063 (PubMed )
Supplement: PATH-245-283-s023.xlsx › lumc_supp_drivers_edited_1.1
Functional characterization of somatic mutations in cancer using network-based inference of protein activity.
Alvarez MJ et al.
Nature Genetics, 2016
27322546 (PubMed )
Supplement: NIHMS789775-supplement-1.pdf
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.
Kooi IE et al.
Scientific Reports, 2016
27126562 (PubMed )
Supplement: srep25264-s3.xls › somaticVariants
Genetic screening in patients with Retinoblastoma in Israel.
Sagi M et al.
Familial Cancer, 2015
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